FGFR1 Gene Kallmann syndrome type 2 NGS Genetic Test
Short Name: FGFR1 NGS Test
Also known as: FGFR1 Gene Mutation Test, Kallmann Syndrome Type 2 Genetic Test, NGS Panel for Hypogonadotropic Hypogonadism
FGFR1 Gene Kallmann syndrome type 2 NGS Genetic Test test available at DNA Labs India for ₹20,000. Uses Next-Generation Sequencing (NGS) on Blood or Extracted DNA or One drop Blood on FTA Card samples. Results in 3 to 4 weeks. Free home collection in 300+ cities across India.
🩺 Medically Reviewed By
Dr SHAILAJA RAGHUNATH MURDESHWAR
Consultant Physician · Reg: 8052
Last reviewed: September 3, 2026
Overview
The purpose of this test is to identify pathogenic variants in the FGFR1 gene that are associated with Kallmann Syndrome Type 2. This helps confirm the clinical diagnosis, guide management, and provide accurate genetic counseling for affected individuals and their families.
- Test Code
- 5809
- CPT Code
- 81408
- ICD Code
- E23.0
- Price
- ₹20,000
- Sample Type
- Blood or Extracted DNA or One drop Blood on FTA Card
- Result Time
- 3 to 4 weeks
- Fasting Required
- No
- Method
- Next-Generation Sequencing (NGS)
Sample Collection
No special preparation is required. However, a clinical history and genetic counseling session are recommended before the test.
Method: Venipuncture or Fingerstick
Laboratory Analysis
Blood sample is collected by venipuncture or a fingerstick for FTA card. The procedure is quick and minimally invasive.
Report Delivery
No specific aftercare is needed. You can resume normal activities immediately.
Timeline: 3 to 4 weeks
Patient Instructions
About This Test
Who Should Get This Test
The purpose of this test is to identify pathogenic variants in the FGFR1 gene that are associated with Kallmann Syndrome Type 2. This helps confirm the clinical diagnosis, guide management, and provide accurate genetic counseling for affected individuals and their families.
How to Prepare
- For blood sample: Use EDTA tube, fill to the indicated mark.
- For FTA card: Apply one drop of blood onto the designated circle.
- Label the sample with patient's name and date of birth.
- Transport at ambient temperature.
Doctor's Notes
Reviewed by Dr SHAILAJA RAGHUNATH MURDESHWAR — MBBS, MD (General Medicine) · Reg. No. 8052
"Kallmann syndrome type 2 is a rare genetic condition that requires precise molecular diagnosis. NGS testing for FGFR1 mutations is essential for confirming the clinical suspicion and guiding reproductive and endocrine management."
Last medically reviewed: September 3, 2026
Test Parameters & Specifications
Sample Stability
- Hemolyzed or clotted blood sample
- Insufficient sample volume
- Improperly labeled sample
- Sample received after prolonged transit time without proper storage
Understanding Your Results
Positive
Pathogenic variant detected. Confirms diagnosis. Genetic counseling recommended for family planning.
Negative
No pathogenic variant found in FGFR1. Consider testing other genes or alternative diagnoses.
Variant of Uncertain Significance (VUS)
A genetic variant was found but its clinical significance is unclear. Further family studies may be needed.
Consult a geneticist or endocrinologist if you or your child have symptoms such as delayed puberty, anosmia, or infertility. Early diagnosis can help manage the condition and improve quality of life.
Limitations
- ⚠This test only analyzes the FGFR1 gene; mutations in other genes causing Kallmann syndrome may not be detected.
- ⚠Variant interpretation may be limited by current scientific knowledge.
- ⚠Regulatory region variants may not be detected by standard NGS.
- ⚠Test does not assess non-genetic causes of hypogonadotropic hypogonadism.
Risks & Considerations
- ●Minimal risk of bruising or infection at the blood draw site
- ●Psychological impact of receiving genetic results
- ●Potential for uncertain results (VUS)
Interfering Factors
- ●Contaminated or degraded DNA sample
- ●Incomplete clinical information
- ●Presence of maternal cell contamination in prenatal samples
- ●Rare variants of uncertain significance may require further analysis
Compare With Similar Tests
| Test | FGFR1 Gene Kallmann syndrome type 2 NGS Genetic Test | Kallmann Syndrome Panel (Multiple Genes) | Whole Exome Sequencing |
|---|---|---|---|
| Comparison | FGFR1 Gene Kallmann syndrome type 2 NGS Genetic Test |
Frequently Asked Questions
What is Kallmann Syndrome Type 2?
What is the cost of the FGFR1 gene NGS genetic test?
What sample is required for this test?
Is fasting required before the test?
How long does it take to get the results?
Is home sample collection available?
What does the NGS test detect?
Can this test be done for children?
What is the role of genetic counseling?
Are there any risks associated with the test?
Will insurance cover this test?
What if the test result is negative?
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₹20,000Reference Laboratory Services
We serve as a reference laboratory for hospitals and clinics across India. Send samples from your facility with same-day pickup, priority processing, and results delivered through our online portal. Competitive institutional pricing available.
Your Data Privacy
Your medical data is protected under Indian law.
✓ Stored in India: All patient records are stored on servers located in India. No data is transferred outside the country.
✓ DPDP Act Compliant: Under the Digital Personal Data Protection Act 2023, you can request deletion of your records at any time by contacting support.
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